ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)

gnomAD frequency: 0.00392  dbSNP: rs114057640
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193998 SCV000247899 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224326 SCV000281456 likely benign not provided 2016-04-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV002314831 SCV000847521 benign Inborn genetic diseases 2016-08-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001087868 SCV001112382 benign Rafiq syndrome 2024-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001087868 SCV001329667 benign Rafiq syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252560 SCV001428317 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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